Canonical Allele Identifier: CA511339552

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1245262343
• gnomAD v2: 20-62038648-C-T
• gnomAD v3: 20-63407295-C-T
• gnomAD v4: 20-63407295-C-T
• MyVariant Identifiers: chr20:g.62038648C>T (hg19) ; chr20:g.63407295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407295C>T , CM000682.2:g.63407295C>T	GRCh38
NC_000020.10:g.62038648C>T , CM000682.1:g.62038648C>T	GRCh37
NC_000020.9:g.61509092C>T	NCBI36
NG_009004.1:g.70346G>A
NG_009004.2:g.70346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2022G>A	ENSP00000516702.1:p.Glu674=
ENST00000359125.7:c.1968G>A MANE Select	ENSP00000352035.2:p.Glu656=
ENST00000637193.1:c.1365G>A	ENSP00000490734.1:p.Glu455=
ENST00000344462.8:c.1875G>A	ENSP00000339611.4:p.Glu625=
ENST00000357249.6:c.1536G>A	ENSP00000349789.3:p.Glu512=
ENST00000359125.6:c.1968G>A	ENSP00000352035.2:p.Glu656=
ENST00000360480.7:c.1884G>A	ENSP00000353668.3:p.Glu628=
ENST00000370224.5:c.1992G>A	ENSP00000359244.2:p.Glu664=
ENST00000625514.2:c.1956G>A	ENSP00000486040.1:p.Glu652=
ENST00000626839.2:c.1914G>A	ENSP00000486706.1:p.Glu638=
ENST00000629241.2:c.1884G>A	ENSP00000487142.1:p.Glu628=
ENST00000629676.2:c.1679+6155G>A	ENSP00000486194.1:n.1679+6155G>A
NM_004518.4:c.1884G>A	NP_004509.2:p.Glu628=
NM_172106.1:c.1914G>A	NP_742104.1:p.Glu638=
NM_172107.2:c.1968G>A	NP_742105.1:p.Glu656=
NM_172108.3:c.1875G>A	NP_742106.1:p.Glu625=
XM_006723787.1:c.2010G>A	XP_006723850.1:p.Glu670=
XM_011528807.1:c.2076G>A	XP_011527109.1:p.Glu692=
XM_011528808.1:c.2073G>A	XP_011527110.1:p.Glu691=
XM_011528809.1:c.2046G>A	XP_011527111.1:p.Glu682=
XM_011528810.1:c.2022G>A	XP_011527112.1:p.Glu674=
XM_011528811.1:c.1992G>A	XP_011527113.1:p.Glu664=
XM_011528812.1:c.1965G>A	XP_011527114.1:p.Glu655=
XM_011528813.1:c.1950G>A	XP_011527115.1:p.Glu650=
XM_011528814.1:c.1557G>A	XP_011527116.1:p.Glu519=
NM_004518.5:c.1884G>A	NP_004509.2:p.Glu628=
NM_172106.2:c.1914G>A	NP_742104.1:p.Glu638=
NM_172107.3:c.1968G>A	NP_742105.1:p.Glu656=
NM_172108.4:c.1875G>A	NP_742106.1:p.Glu625=
XM_011528810.2:c.2022G>A	XP_011527112.1:p.Glu674=
XM_011528811.2:c.1992G>A	XP_011527113.1:p.Glu664=
XM_017027841.2:c.2019G>A	XP_016883330.1:p.Glu673=
XM_017027842.2:c.1956G>A	XP_016883331.1:p.Glu652=
XM_017027843.1:c.1953G>A	XP_016883332.1:p.Glu651=
XM_017027844.2:c.1911G>A	XP_016883333.1:p.Glu637=
XM_017027845.1:c.984G>A	XP_016883334.1:p.Glu328=
NM_004518.6:c.1884G>A	NP_004509.2:p.Glu628=
NM_172106.3:c.1914G>A	NP_742104.1:p.Glu638=
NM_172107.4:c.1968G>A MANE Select	NP_742105.1:p.Glu656=
NM_172108.5:c.1875G>A	NP_742106.1:p.Glu625=
NM_001382235.1:c.2022G>A	NP_001369164.1:p.Glu674=